Related gene-specific medical variations for Gene (Select 5583) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3218785	NM_006255.5(PRKCH):c.347A>G (p.Asp116Gly)	PRKCH, PRKCH-AS1 (D116G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218784	NM_006255.5(PRKCH):c.199A>G (p.Thr67Ala)	PRKCH, PRKCH-AS1 (T67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218781	NM_006255.5(PRKCH):c.153G>C (p.Gln51His)	PRKCH, PRKCH-AS1 (Q51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218777	NM_006255.5(PRKCH):c.118C>G (p.Leu40Val)	PRKCH, PRKCH-AS1 (L40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218776	NM_006255.5(PRKCH):c.107A>G (p.Lys36Arg)	PRKCH, PRKCH-AS1 (K36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179434	NM_001017970.3(TMEM30B):c.898A>C (p.Lys300Gln)	PRKCH, TMEM30B (K300Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179433	NM_001017970.3(TMEM30B):c.806T>G (p.Ile269Ser)	PRKCH, TMEM30B (I269S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179432	NM_001017970.3(TMEM30B):c.790A>G (p.Lys264Glu)	PRKCH, TMEM30B (K264E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179431	NM_001017970.3(TMEM30B):c.679C>T (p.Pro227Ser)	PRKCH, TMEM30B (P227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179430	NM_001017970.3(TMEM30B):c.637A>G (p.Asn213Asp)	PRKCH, TMEM30B (N213D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179429	NM_001017970.3(TMEM30B):c.629C>T (p.Pro210Leu)	PRKCH, TMEM30B (P210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179428	NM_001017970.3(TMEM30B):c.407T>G (p.Leu136Arg)	PRKCH, TMEM30B (L136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179427	NM_001017970.3(TMEM30B):c.349T>C (p.Phe117Leu)	PRKCH, TMEM30B (F117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179426	NM_001017970.3(TMEM30B):c.334T>G (p.Tyr112Asp)	PRKCH, TMEM30B (Y112D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179425	NM_001017970.3(TMEM30B):c.314A>G (p.Gln105Arg)	PRKCH, TMEM30B (Q105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179424	NM_001017970.3(TMEM30B):c.19G>A (p.Ala7Thr)	PRKCH, TMEM30B (A7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608307	NM_001017970.3(TMEM30B):c.912C>A (p.Phe304Leu)	PRKCH, TMEM30B (F304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608306	NM_001017970.3(TMEM30B):c.398T>C (p.Leu133Pro)	PRKCH, TMEM30B (L133P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600811	NM_001017970.3(TMEM30B):c.740A>G (p.Asn247Ser)	PRKCH, TMEM30B (N247S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594543	NM_001017970.3(TMEM30B):c.844G>T (p.Ala282Ser)	PRKCH, TMEM30B (A282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569570	NM_001017970.3(TMEM30B):c.532C>T (p.His178Tyr)	PRKCH, TMEM30B (H178Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547077	NM_001017970.3(TMEM30B):c.551G>A (p.Gly184Glu)	PRKCH, TMEM30B (G184E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492774	NM_001017970.3(TMEM30B):c.892G>A (p.Gly298Ser)	PRKCH, TMEM30B (G298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489024	NM_001017970.3(TMEM30B):c.457A>T (p.Ser153Cys)	PRKCH, TMEM30B (S153C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408620	NM_001017970.3(TMEM30B):c.334T>C (p.Tyr112His)	PRKCH, TMEM30B (Y112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403894	NM_001017970.3(TMEM30B):c.146T>G (p.Leu49Arg)	PRKCH, TMEM30B (L49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399222	NM_001017970.3(TMEM30B):c.773C>T (p.Ala258Val)	PRKCH, TMEM30B (A258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366324	NM_001017970.3(TMEM30B):c.124G>T (p.Ala42Ser)	PRKCH, TMEM30B (A42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363182	NM_001017970.3(TMEM30B):c.827C>T (p.Ala276Val)	PRKCH, TMEM30B (A276V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357776	NM_001017970.3(TMEM30B):c.1032C>A (p.Asp344Glu)	PRKCH, TMEM30B (D344E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341842	NM_006255.5(PRKCH):c.1118G>C (p.Arg373Thr)	LOC132090228, PRKCH (R373T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334740	NM_001017970.3(TMEM30B):c.283G>A (p.Ala95Thr)	TMEM30B, PRKCH (A95T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326840	NM_001017970.3(TMEM30B):c.446C>T (p.Pro149Leu)	PRKCH, TMEM30B (P149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310542	NM_006255.5(PRKCH):c.194A>G (p.Lys65Arg)	PRKCH, PRKCH-AS1 (K65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303284	NM_006255.5(PRKCH):c.328C>T (p.Arg110Cys)	PRKCH, PRKCH-AS1 (R110C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301708	NM_001017970.3(TMEM30B):c.190G>C (p.Glu64Gln)	PRKCH, TMEM30B (E64Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279888	NM_001017970.3(TMEM30B):c.782C>G (p.Thr261Arg)	PRKCH, TMEM30B (T261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224404	NM_001017970.3(TMEM30B):c.538C>T (p.Arg180Cys)	PRKCH, TMEM30B (R180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 977099	NM_006255.5(PRKCH):c.164G>C (p.Gly55Ala)	PRKCH, PRKCH-AS1 (G55A)	Single nucleotide variant (missense variant)	Ischemic stroke	GUncertain significance
Select item 776844	NM_006255.5(PRKCH):c.1105-9T>C	LOC132090228, PRKCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 4991	NM_006255.5(PRKCH):c.1120G>A (p.Val374Ile)	LOC132090228, PRKCH (V374I)	Single nucleotide variant (missense variant)	Cerebral infarction, susceptibility to	Grisk factor

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 41